W40R (p.Trp40Arg) variant of TNFRSF13B (O14836)
W40R (p.Trp40Arg) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2; not provided; Immunoglobulin A deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
W40R (p.Trp40Arg) variant details
- p.Trp40Arg
- rs72553874
- ClinGen CA8414111
- ClinVar RCV000989758
- ClinVar RCV003151825
- Uncertain significance
- Immunodeficiency, common variable, 2; not provided; Immunoglobulin A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.85
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; not provided; Immunoglobul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available